title: Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.
abstract: Using restriction endonuclease analysis, oligonucleotide hybridization, and direct sequencing of amplified genomic DNA, we characterized 11 different mutations in the DNA of 26 patients from Turkey homozygous for beta-thalassemia. We found that mutations IVS-1 nt110, IVS-1 nt6, and the frameshift at codon 8 were the most frequent. By direct sequencing we characterized two very rare mutations not previously reported in the Turkish population: a frameshift +1 at codons 9/10 and a nonsense mutation at codon 15.
authors.affiliation: Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
authors.forename: C
authors.initials: C
authors.lastname: Aulehla-Scholz
authors.forename: S
authors.initials: S
authors.lastname: Basaran
authors.forename: L
authors.initials: L
authors.lastname: Agaoglu
authors.forename: A
authors.initials: A
authors.lastname: Arcasoy
authors.forename: W
authors.initials: W
authors.lastname: Holzgreve
authors.forename: P
authors.initials: P
authors.lastname: Miny
authors.forename: F
authors.initials: F
authors.lastname: Ridolfi
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D013789:Thalassemia / Q000235:genetics*; D014421:Turkey
chemical_list: D005819:Genetic Markers; D004247:DNA